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PMID: 822770 Published · ppublish fre Case Reports English Abstract Journal Article

[The r(22) syndrome, Apropos of 4 new cases].

Le syndrome r (22). A propos de 4 nouvelles observations

Annales de genetique ·Vol. 19 ·No. 2 ·1976-06-00 ·Pages 111

Rethore MO, Noël B, Couturier J, Prieur M, Lafourcade J, Lejeune J

Abstract

Four patients with a ring derived from chromosome n 22 - r(22)-are reported. The clinical syndrome is described, based on the description of these patients and ten others already reported in the litterature. The "doe's eye" anomaly appears to be the only morphological symptom of the disease. Mental retardation is pronounced and associated with disturbed equilibrium.

MeSH Terms
Adolescent Child Child, Preschool Chromosome Aberrations Chromosomes, Human, 21-22 and Y Eye Abnormalities Female Humans Intellectual Disability/genetics Male Psychomotor Disorders/genetics Syndrome
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Rethore M O
Noël B
Couturier J
Prieur M
Lafourcade J
Lejeune J
Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1976-06-00
Pages
111
Language
fre
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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